A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548980



Internal ID22417928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5978874..6747083hg38UCSC Ensembl
chr7:6018505..6786714hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38768210
hg19768210
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456001, nssv14462600
SamplesNA19238, HG00731
Known GenesAIMP2, ANKRD61, C7orf26, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548980
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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